ABSTRACT
The case of a 41-year-old male patient is described who presented with progressive deterioration of vision in both eyes. The results of laboratory tests and magnetic resonance tomography led to the suspicion of a plasmacytoma, which was confirmed by serum electrophoresis. Treatment with two cycles of vincristine, adriamycine and dexamethasone led to a regression of the papilledema and remission of the system disease.
Subject(s)
Anemia/complications , Anemia/diagnosis , Papilledema/diagnosis , Papilledema/etiology , Plasmacytoma/complications , Plasmacytoma/diagnosis , Vision, Low/diagnosis , Vision, Low/etiology , Adult , Humans , MaleABSTRACT
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a heterogeneous pattern of symptoms consisting of clinically different types. AMC is a non-progressive condition, which is characterized by congenital contracture of several joints in different body areas and may also occur as a manifestation of other syndromes. In such syndromes retinopathy as an ophthalmological manifestation of AMC has been described in the literature in only two patients. CASE REPORT: A 12-year-old girl with AMC presented with progressive visual loss since 1 year. Visual acuity was 0.5 in the right and 0.8 in the left eye. Visual fields were concentrically constricted. Funduscopy revealed an atrophic retinal pigment epithelium of the whole fundus with vital optic discs. In the scotopic electroretinogram (ERG) amplitudes were dramatically decreased or absent and cone signals were delayed. The multifocal ERG (mfERG) presented pathologically reduced amplitudes in the macular region as well as in the periphery. Examinations 5 and 8 years later revealed a reduction of visual acuity to 0.05 in the right and to 0.1 in the left eye, in addition the results of perimetry and of the Ganzfeld-ERG had deceased and the mfERG was no longer measurable. CONCLUSION: This young female demonstrated an AMC in combination with retinitis pigmentosa, but other disease manifestations or cerebral retardation could not be found. We present here an unusual case of what seems to be a new athrogryposis syndrome.
Subject(s)
Arthrogryposis/diagnosis , Retinitis Pigmentosa/diagnosis , Child , Female , Humans , SyndromeABSTRACT
BACKGROUND: Mycophenolate mofetil (MMF) is a new immunosuppressive agent that effectively controls the intraocular inflammation in adults. PURPOSE: To assess the efficacy of MMF in uveitis in children and to analyse the possible side effects. PARTICIPANTS AND METHODS: A retrospective analysis was carried out on 17 children (32 eyes) with intraocular inflammation treated with MMF and followed up at the University Eye Hospital Tuebingen, Tuebingen, Germany, between 2000 and 2005. All children had chronic non-infectious uveitis and received MMF for at least 6 months. All patients were given steroids or other immunosuppressive agents before initiating treatment with MMF. RESULTS: 17 children (10 boys and 7 girls) with a mean age of 8 (range 2-13) years at the onset of uveitis were examined. The average duration of follow-up after initiation of MMF was 3 (range 2-5) years. A steroid-sparing effect was achieved in 88% of the patients. The oral prednisolone was successfully discontinued in 41% children and reduced to a daily dose of < or =5 mg in 47% of the children. 24% of the patients remained relapse-free during the treatment, but a reduction in the relapse rate was observed in all other patients except one. Visual acuity was increased or maintained in 13 children (76%). Mild side effects (headache, rash, gastrointestinal discomfort) occurred in 7 patients (41%) and were the cause of discontinuation of MMF in 1 patient. CONCLUSION: The results of our study are encouraging and suggest that MMF is an effective agent also in the treatment for uveitis in children, with marked steroid-sparing potential and an acceptable side effect profile.